Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00556:Tlr7'

3073

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tlr7

Ensembl Gene

ENSMUSG00000044583

Gene Name

toll-like receptor 7

Synonyms

RP23-139P21.3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

IGL00556

Quality Score

Status

Chromosome

Chromosomal Location

167304929-167330558 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 167308475 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 5 (M5R)

Ref Sequence

ENSEMBL: ENSMUSP00000114305 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060719] [ENSMUST00000112161] [ENSMUST00000112164] [ENSMUST00000137492] [ENSMUST00000145284]

AlphaFold

P58681

Predicted Effect

probably benign
Transcript: ENSMUST00000060719
AA Change: M5R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000061853
Gene: ENSMUSG00000044583
AA Change: M5R

Domain	Start	End	E-Value	Type
LRRNT	35	69	5.03e-1	SMART
LRR	126	149	2.45e0	SMART
LRR	203	226	9.75e0	SMART
LRR_TYP	289	312	1.28e-3	SMART
LRR	313	337	2.08e1	SMART
LRR	396	419	9.22e0	SMART
LRR	497	516	1.09e2	SMART
LRR	542	565	4.97e0	SMART
LRR	596	619	2.76e2	SMART
LRR_TYP	650	673	1.72e-4	SMART
Pfam:LRR_7	676	692	7.2e-2	PFAM
LRR_TYP	699	722	1.58e-3	SMART
LRR	724	746	8.26e1	SMART
LRR	749	770	2.15e2	SMART
LRRCT	784	835	1.56e-3	SMART
transmembrane domain	851	873	N/A	INTRINSIC
Pfam:TIR	894	1033	4.7e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112161
AA Change: M5R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000107787
Gene: ENSMUSG00000044583
AA Change: M5R

Domain	Start	End	E-Value	Type
LRRNT	35	69	5.03e-1	SMART
LRR	126	149	2.45e0	SMART
LRR	203	226	9.75e0	SMART
LRR_TYP	289	312	1.28e-3	SMART
LRR	313	337	2.08e1	SMART
LRR	396	419	9.22e0	SMART
LRR	497	516	1.09e2	SMART
LRR	542	565	4.97e0	SMART
LRR	596	619	2.76e2	SMART
LRR_TYP	650	673	1.72e-4	SMART
Pfam:LRR_7	676	692	7.2e-2	PFAM
LRR_TYP	699	722	1.58e-3	SMART
LRR	724	746	8.26e1	SMART
LRR	749	770	2.15e2	SMART
LRRCT	784	835	1.56e-3	SMART
transmembrane domain	851	873	N/A	INTRINSIC
Pfam:TIR	894	1033	4.7e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112164
AA Change: M5R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000107789
Gene: ENSMUSG00000044583
AA Change: M5R

Domain	Start	End	E-Value	Type
LRRNT	35	69	5.03e-1	SMART
LRR	126	149	2.45e0	SMART
LRR	203	226	9.75e0	SMART
LRR_TYP	289	312	1.28e-3	SMART
LRR	313	337	2.08e1	SMART
LRR	396	419	9.22e0	SMART
LRR	497	516	1.09e2	SMART
LRR	542	565	4.97e0	SMART
LRR	596	619	2.76e2	SMART
LRR_TYP	650	673	1.72e-4	SMART
LRR_TYP	699	722	1.58e-3	SMART
LRR	724	746	8.26e1	SMART
LRR	749	770	2.15e2	SMART
LRRCT	784	835	1.56e-3	SMART
transmembrane domain	851	873	N/A	INTRINSIC
Pfam:TIR	891	1049	1.7e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137492
AA Change: M8R

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000145284
AA Change: M5R

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is predominantly expressed in lung, placenta, and spleen, and lies in close proximity to another family member, TLR8, on chromosome X. [provided by RefSeq, Jul 2008]
PHENOTYPE: The innate immune response to viral infection is affected in homozygous null mice. Mice homozygous or hemizygous for a point mutation produce little or no tumor necrosis factor (TNF) alpha in response to stimulation by a single stranded RNA analog. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	T	C	2: 130,784,457	D225G	probably benign	Het
Abca12	T	C	1: 71,353,757	I108V	probably benign	Het
Atad2	A	G	15: 58,100,080	I723T	probably damaging	Het
Cct4	T	A	11: 22,997,656	V233E	possibly damaging	Het
Ces1a	A	G	8: 93,045,059	Y37H	probably benign	Het
Cgnl1	C	T	9: 71,656,056	R863Q	probably benign	Het
Fam13b	T	C	18: 34,497,435	D90G	probably damaging	Het
Fhdc1	A	T	3: 84,457,242	D232E	possibly damaging	Het
Gm6370	A	G	5: 146,493,913	T303A	probably benign	Het
Gsdmc2	A	G	15: 63,828,271		probably benign	Het
Kif13b	T	A	14: 64,744,888	N516K	probably damaging	Het
Med1	A	G	11: 98,155,684		probably benign	Het
Med4	T	C	14: 73,517,267	M190T	probably damaging	Het
Myo15b	T	C	11: 115,891,916	V1534A	possibly damaging	Het
Neb	T	C	2: 52,191,949	R1722G	probably benign	Het
Obp2b	A	T	2: 25,738,581	I116F	probably damaging	Het
Rims2	A	G	15: 39,456,674		probably null	Het
Siglecg	A	T	7: 43,411,795	I431F	probably benign	Het
Thap12	T	A	7: 98,716,137	V504D	possibly damaging	Het
Tubgcp6	A	G	15: 89,100,962	V1641A	probably damaging	Het
Ugt2b1	T	A	5: 86,926,196	L101F	probably benign	Het
Xdh	A	T	17: 73,884,435	*1336R	probably null	Het

Other mutations in Tlr7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01064:Tlr7	APN	X	167308211	missense	probably damaging	1.00
IGL02940:Tlr7	APN	X	167307834	missense	probably benign	0.02
IGL03064:Tlr7	APN	X	167306207	missense	possibly damaging	0.89
IGL03298:Tlr7	APN	X	167306707	missense	probably benign	0.45
rsq1	UTSW	X	167308286	missense	probably damaging	1.00
rsq2	UTSW	X	167307945	missense	probably damaging	1.00
rsq3	UTSW	X	167307945	missense	probably damaging	1.00
R1400:Tlr7	UTSW	X	167307849	missense	probably damaging	1.00
R1883:Tlr7	UTSW	X	167306472	missense	probably benign	0.20
R5929:Tlr7	UTSW	X	167306882	missense	probably damaging	1.00

Posted On

2012-04-20